Details for: OAT

Gene ID: 4942

Symbol: OAT

Ensembl ID: ENSG00000065154

Description: ornithine aminotransferase

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 176.1134
    Cell Significance Index: -44.6700
  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 131.9873
    Cell Significance Index: -20.5300
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 121.2776
    Cell Significance Index: -49.9600
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 106.4554
    Cell Significance Index: -50.2600
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 103.7520
    Cell Significance Index: -42.1500
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 93.9471
    Cell Significance Index: -48.3300
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 75.1838
    Cell Significance Index: -50.4500
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 44.2632
    Cell Significance Index: -42.2600
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 33.5697
    Cell Significance Index: -41.3900
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 16.6750
    Cell Significance Index: -44.6700
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 12.6101
    Cell Significance Index: -49.7600
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 11.2260
    Cell Significance Index: -34.4800
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 3.2639
    Cell Significance Index: 152.1800
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 3.0664
    Cell Significance Index: 184.0900
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 2.4802
    Cell Significance Index: 67.5100
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 2.3055
    Cell Significance Index: 66.0900
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 2.1607
    Cell Significance Index: 29.4800
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 1.9603
    Cell Significance Index: 92.1300
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 1.8911
    Cell Significance Index: 244.3200
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 1.6555
    Cell Significance Index: 212.2300
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 1.5956
    Cell Significance Index: 219.1200
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 1.5606
    Cell Significance Index: 110.3700
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 1.5162
    Cell Significance Index: 113.0000
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 1.4484
    Cell Significance Index: 31.3800
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 1.1887
    Cell Significance Index: 525.5700
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 1.1669
    Cell Significance Index: 210.3600
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 1.0776
    Cell Significance Index: 56.5800
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 1.0649
    Cell Significance Index: 130.9400
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.0135
    Cell Significance Index: 203.3100
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 1.0024
    Cell Significance Index: 198.9300
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.7434
    Cell Significance Index: 21.4200
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.6985
    Cell Significance Index: 381.4500
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.6714
    Cell Significance Index: 127.7800
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.5810
    Cell Significance Index: 40.1800
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.4478
    Cell Significance Index: 160.6400
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.4301
    Cell Significance Index: 19.5000
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.4152
    Cell Significance Index: 41.0700
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.3432
    Cell Significance Index: 9.5900
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.3416
    Cell Significance Index: 7.1500
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.2178
    Cell Significance Index: 196.6400
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.1931
    Cell Significance Index: 31.4100
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.1401
    Cell Significance Index: 3.6900
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.1209
    Cell Significance Index: 4.2500
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0286
    Cell Significance Index: 19.7900
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.0215
    Cell Significance Index: 0.6900
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0145
    Cell Significance Index: 27.2800
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0114
    Cell Significance Index: 1.9400
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0017
    Cell Significance Index: -2.6800
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0098
    Cell Significance Index: -13.3300
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0108
    Cell Significance Index: -7.9800
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0131
    Cell Significance Index: -8.2000
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0137
    Cell Significance Index: -0.2300
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0152
    Cell Significance Index: -9.6300
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0160
    Cell Significance Index: -0.3400
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0168
    Cell Significance Index: -12.3400
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0185
    Cell Significance Index: -8.3900
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0192
    Cell Significance Index: -35.4100
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0196
    Cell Significance Index: -14.8300
  • Cell Name: tuft cell of small intestine (CL0009080)
    Fold Change: -0.0486
    Cell Significance Index: -0.4900
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0569
    Cell Significance Index: -32.0700
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.0610
    Cell Significance Index: -2.1200
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.0822
    Cell Significance Index: -5.1800
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0960
    Cell Significance Index: -9.8000
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0970
    Cell Significance Index: -11.4400
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.0998
    Cell Significance Index: -11.3900
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1197
    Cell Significance Index: -25.2100
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1458
    Cell Significance Index: -41.9500
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1788
    Cell Significance Index: -20.4800
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.1852
    Cell Significance Index: -4.6300
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1875
    Cell Significance Index: -27.2500
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.1974
    Cell Significance Index: -5.2700
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.2415
    Cell Significance Index: -16.2400
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.2584
    Cell Significance Index: -30.1100
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.2975
    Cell Significance Index: -18.2900
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.4085
    Cell Significance Index: -31.3500
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.4327
    Cell Significance Index: -45.0500
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.4331
    Cell Significance Index: -12.3600
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.4525
    Cell Significance Index: -35.8400
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.5347
    Cell Significance Index: -5.5400
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.5391
    Cell Significance Index: -34.7800
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: -0.5452
    Cell Significance Index: -9.6400
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.5585
    Cell Significance Index: -16.4500
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.6184
    Cell Significance Index: -32.2100
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.6411
    Cell Significance Index: -17.1500
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.6633
    Cell Significance Index: -37.2200
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.6733
    Cell Significance Index: -13.1400
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.6882
    Cell Significance Index: -30.4400
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.6942
    Cell Significance Index: -18.6000
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.7209
    Cell Significance Index: -44.2000
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.7383
    Cell Significance Index: -38.3500
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -0.7527
    Cell Significance Index: -5.1000
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.7874
    Cell Significance Index: -28.9100
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.8173
    Cell Significance Index: -30.9500
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: -0.8625
    Cell Significance Index: -7.2500
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.8768
    Cell Significance Index: -22.4000
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.9407
    Cell Significance Index: -24.1800
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: -0.9511
    Cell Significance Index: -13.3400
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.9555
    Cell Significance Index: -11.3900
  • Cell Name: melanocyte of skin (CL1000458)
    Fold Change: -0.9567
    Cell Significance Index: -13.4100
  • Cell Name: luminal hormone-sensing cell of mammary gland (CL4033058)
    Fold Change: -0.9652
    Cell Significance Index: -5.9400

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Substrate specificity:** OAT catalyzes the transfer of an amino group from ornithine to α-ketoglutarate, producing glutamate and carbamoyl phosphate. 2. **Mitochondrial localization:** The OAT enzyme is predominantly found in the mitochondrial matrix, where it participates in the regulation of arginine catabolism and the urea cycle. 3. **Amino acid metabolism:** OAT is involved in the catabolism of arginine to glutamate and proline, which are essential amino acids for various cellular processes. 4. **Protein binding:** OAT exhibits identical protein binding properties, suggesting its potential interactions with other proteins involved in amino acid metabolism. **Pathways and Functions:** 1. **Arginine catabolic process to glutamate:** OAT catalyzes the transfer of an amino group from ornithine to α-ketoglutarate, producing glutamate and carbamoyl phosphate. 2. **Arginine catabolic process to proline via ornithine:** OAT plays a crucial role in the conversion of ornithine to proline, which is a key amino acid in collagen synthesis and protein structure. 3. **Glutamate and glutamine metabolism:** OAT is involved in the regulation of glutamate and glutamine metabolism, which are essential for various cellular processes, including neurotransmission and energy production. 4. **L-proline biosynthetic process:** OAT participates in the biosynthesis of L-proline, which is a precursor for collagen synthesis and protein structure. **Clinical Significance:** 1. **Urea cycle disorders:** Mutations in the OAT gene have been implicated in urea cycle disorders, such as hyperammonemia and hyperornithinemia. 2. **Amino acid metabolism disorders:** Abnormalities in OAT activity have been linked to amino acid metabolism disorders, including hyperammonemia and hypoglycemia. 3. **Neurological disorders:** OAT dysregulation has been implicated in neurological disorders, such as epilepsy and Alzheimer's disease, which are associated with glutamate and glutamine metabolism. 4. **Cancer:** OAT expression has been found to be altered in various types of cancer, suggesting its potential role in cancer progression and metastasis. In conclusion, ornithine aminotransferase (OAT) is a critical enzyme in amino acid metabolism, playing a pivotal role in the regulation of arginine catabolism and the urea cycle. Its dysregulation has been implicated in various human diseases, highlighting the importance of OAT in maintaining human health and disease prevention.

Genular Protein ID: 788756170

Symbol: OAT_HUMAN

Name: Ornithine aminotransferase, mitochondrial

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 3456579

Title: Molecular cloning of human ornithine aminotransferase mRNA.

PubMed ID: 3456579

DOI: 10.1073/pnas.83.5.1203

PubMed ID: 3816496

Title: Investigation of gyrate atrophy using a cDNA clone for human ornithine aminotransferase.

PubMed ID: 3816496

DOI: 10.1089/dna.1.1986.5.493

PubMed ID: 2507357

Title: Molecular cloning and nucleotide sequence analysis of mRNA for human kidney ornithine aminotransferase. An examination of ornithine aminotransferase isozymes between liver and kidney.

PubMed ID: 2507357

DOI: 10.1016/0014-5793(89)81110-x

PubMed ID: 3170546

Title: Human ornithine-delta-aminotransferase. cDNA cloning and analysis of the structural gene.

PubMed ID: 3170546

DOI: 10.1016/s0021-9258(18)68219-5

PubMed ID: 2373169

Title: Analysis of the human ornithine aminotransferase gene family.

PubMed ID: 2373169

DOI: 10.1016/0014-4835(90)90126-f

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 17974005

Title: The full-ORF clone resource of the German cDNA consortium.

PubMed ID: 17974005

DOI: 10.1186/1471-2164-8-399

PubMed ID: 15164054

Title: The DNA sequence and comparative analysis of human chromosome 10.

PubMed ID: 15164054

DOI: 10.1038/nature02462

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 1682785

Title: Molecular pathology of gyrate atrophy of the choroid and retina due to ornithine aminotransferase deficiency.

PubMed ID: 1682785

PubMed ID: 3754226

Title: The primary structure of ornithine aminotransferase. Identification of active-site sequence and site of post-translational proteolysis.

PubMed ID: 3754226

DOI: 10.1016/0014-5793(86)81219-4

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 9309222

Title: Human ornithine aminotransferase complexed with L-canaline and gabaculine: structural basis for substrate recognition.

PubMed ID: 9309222

DOI: 10.1016/s0969-2126(97)00258-x

PubMed ID: 9514741

Title: Crystal structure of human recombinant ornithine aminotransferase.

PubMed ID: 9514741

DOI: 10.1006/jmbi.1997.1583

PubMed ID: 9878407

Title: Crystal structure of human ornithine aminotransferase complexed with the highly specific and potent inhibitor 5-fluoromethylornithine.

PubMed ID: 9878407

DOI: 10.1006/jmbi.1998.2289

PubMed ID: 3375240

Title: Molecular basis of ornithine aminotransferase deficiency in B-6-responsive and -nonresponsive forms of gyrate atrophy.

PubMed ID: 3375240

DOI: 10.1073/pnas.85.11.3777

PubMed ID: 2793865

Title: Point mutation affecting processing of the ornithine aminotransferase precursor protein in gyrate atrophy.

PubMed ID: 2793865

DOI: 10.1016/s0021-9258(18)71513-5

PubMed ID: 1612597

Title: Strand-separating conformational polymorphism analysis: efficacy of detection of point mutations in the human ornithine delta-aminotransferase gene.

PubMed ID: 1612597

DOI: 10.1016/0888-7543(92)90258-t

PubMed ID: 1737786

Title: Ornithine delta-aminotransferase mutations in gyrate atrophy. Allelic heterogeneity and functional consequences.

PubMed ID: 1737786

DOI: 10.1016/s0021-9258(19)50731-1

PubMed ID: 7887415

Title: Pyridoxine-responsive gyrate atrophy of the choroid and retina: clinical and biochemical correlates of the mutation A226V.

PubMed ID: 7887415

PubMed ID: 7668253

Title: A single amino acid substitution within the mature sequence of ornithine aminotransferase obstructs mitochondrial entry of the precursor.

PubMed ID: 7668253

PubMed ID: 23076989

Title: Functional analysis of missense mutations of OAT, causing gyrate atrophy of choroid and retina.

PubMed ID: 23076989

DOI: 10.1002/humu.22233

Sequence Information:

  • Length: 439
  • Mass: 48535
  • Checksum: E9D0636824A83220
  • Sequence:
  • MFSKLAHLQR FAVLSRGVHS SVASATSVAT KKTVQGPPTS DDIFEREYKY GAHNYHPLPV 
    ALERGKGIYL WDVEGRKYFD FLSSYSAVNQ GHCHPKIVNA LKSQVDKLTL TSRAFYNNVL 
    GEYEEYITKL FNYHKVLPMN TGVEAGETAC KLARKWGYTV KGIQKYKAKI VFAAGNFWGR 
    TLSAISSSTD PTSYDGFGPF MPGFDIIPYN DLPALERALQ DPNVAAFMVE PIQGEAGVVV 
    PDPGYLMGVR ELCTRHQVLF IADEIQTGLA RTGRWLAVDY ENVRPDIVLL GKALSGGLYP 
    VSAVLCDDDI MLTIKPGEHG STYGGNPLGC RVAIAALEVL EEENLAENAD KLGIILRNEL 
    MKLPSDVVTA VRGKGLLNAI VIKETKDWDA WKVCLRLRDN GLLAKPTHGD IIRFAPPLVI 
    KEDELRESIE IINKTILSF

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.